Canonical Allele Identifier: CA354143295

Gene: ILDR1

Linked Data

• MyVariant Identifiers: chr3:g.121712362G>T (hg19) ; chr3:g.121993515G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.121993515G>T , CM000665.2:g.121993515G>T	GRCh38
NC_000003.11:g.121712362G>T , CM000665.1:g.121712362G>T	GRCh37
NC_000003.10:g.123195052G>T	NCBI36
NG_031870.1:g.33766C>A
NG_031870.2:g.72040C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.1234C>A MANE Select	ENSP00000345667.5:p.Pro412Thr
ENST00000460554.2:n.1184C>A
ENST00000642615.1:c.*417C>A	ENSP00000495499.1:n.*417C>A
ENST00000273691.7:c.1102C>A	ENSP00000273691.3:p.Pro368Thr
ENST00000344209.9:c.1234C>A	ENSP00000345667.5:p.Pro412Thr
ENST00000393631.5:c.967C>A	ENSP00000377251.1:p.Pro323Thr
ENST00000460554.1:n.1336C>A
ENST00000462014.1:c.1138C>A	ENSP00000419414.1:p.Pro380Thr
NM_001199799.1:c.1234C>A	NP_001186728.1:p.Pro412Thr
NM_001199800.1:c.967C>A	NP_001186729.1:p.Pro323Thr
NM_175924.3:c.1102C>A	NP_787120.1:p.Pro368Thr
XM_005247389.3:c.1138C>A	XP_005247446.1:p.Pro380Thr
XM_011512738.1:c.1234C>A	XP_011511040.1:p.Pro412Thr
XM_011512739.1:c.697C>A	XP_011511041.1:p.Pro233Thr
XM_005247389.4:c.1138C>A	XP_005247446.1:p.Pro380Thr
XM_011512738.2:c.1234C>A	XP_011511040.1:p.Pro412Thr
XM_011512739.2:c.697C>A	XP_011511041.1:p.Pro233Thr
NM_001199799.2:c.1234C>A MANE Select	NP_001186728.1:p.Pro412Thr
NM_001199800.2:c.967C>A	NP_001186729.1:p.Pro323Thr
NM_175924.4:c.1102C>A	NP_787120.1:p.Pro368Thr